Table 1.
Current Patient, 2016 | Grinberg et al,6 2004 | Grinberg et al,6 2004 | Grinberg et al,6 2004 | Grinberg et al,6 2004 | Grinberg et al,6 2004 | Grinberg et al,6 2004 | Grinberg et al,6 2004 | |
---|---|---|---|---|---|---|---|---|
Patient details | ||||||||
Identifier | − | LR00-225 | LR03-384 | LR01-306 | LR01-242 | LR02-027 | LR03-317 | LR01-273 |
3q deletion | 3q22.3q24 | 3q22.2q25.2 | 3q22q26 | 3q23q25.31 | 3q23q25.31 | 3q23q25.1 | 3q24q25.1 | 3q22.2q25.1 |
DWM features | ||||||||
Severity of imaging changes | + | ++ | +++ | + | + | +++ | ++ | ++ |
Other features | ||||||||
Corpus callosum thinning | + | NR | NR | NR | NR | NR | NR | NR |
Microcephaly | + | NR | NR | NR | NR | NR | NR | NR |
BPES | + | + | − | + | − | − | − | + |
Developmental delay | + | + | + | + | + | + | + | + |
Grinberg et al,6 2004 | Lim et al,19 2011 | Ramieri et al,20 2011 | Tohyama et al,5 2011 | Weber et al,22 2011 | D’Amours,21 2012 | Ferraris et al,4 2013 | Ferraris et al,4 2013 | |
Patient details | ||||||||
Identifier | LR01-325 | − | − | − | HD24 | CCM067 | CCM095 | |
3q deletion | 3q25.1q25.33 | 3q22.3q25.2 | 3q22.1q25.2 | 3q23q25.1 | 3q23q25.1 | 3q25.1q25.32 | 3q22.3q25.31 | 3q23q26.1 |
DWM features | ||||||||
Severity of imaging changes | ++ | ++ | ++ | + | ++ | + | +++ | +++ |
Other features | ||||||||
Corpus callosum thinning | NR | NR | NR | NR | NR | NR | + | + |
Microcephaly | − | − | + | − | + | − | NR | NR |
BPES | − | + | + | − | + | − | + | − |
Developmental delay | + | + | + | + | + | NR | + | + |
Abbreviations: BPES, blepharophimosis–ptosis–epicanthus inversus syndrome; DWM, Dandy-Walker malformation; NR, not reported.
Note. + = mild, ++ = moderate, +++ = severe.